| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C0333768 | Tubular aggregates | phenotype | Cell or Molecular Dysfunction | 2 | |||
| C2931004 | Congenital disorder of glycosylation type 1J | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 1 | |
| C3553645 | MYASTHENIC SYNDROME, CONGENITAL, 13 | disease | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 |